Summary stats

General stats about the patient cohort

Stat	Value
Unique HPO terms	24
Cohort size	1932
Rejected patients by empty profile	0
HPOs per patient (average)	4.0399
HPO terms per patient: percentile 90	3
Percentage of HPO with more specific children	78.6547
DsI for uniq HP terms	0
DsI for frequency weigthed HP terms	0
Number of unknown phenotypes	0
Number of clusters with mutations accross > 1 chromosomes	1078
Average variant size	3498347.164
Nucleotides affected by mutations	1266576677
Number of genome windows	860
Mean patients per genome window	2.4942
Number of genome window shared by >= 2 patients	466
Number of patients with at least 1 SOR	562
Nucleotides affected by mutations	522948664

HPO stats

HPOs more frequent in the cohort

HPO	Patient percentage
Cognitive impairment	93.42650103519668
Intellectual disability, mild	29.244306418219463
Intellectual disability, severe	28.93374741200828
Short stature	27.173913043478258
Seizure	26.501035196687372
Autistic behavior	25.77639751552795
Hypotonia	25.62111801242236
Microcephaly	21.790890269151138
Behavioral abnormality	19.875776397515526
Intellectual disability, moderate	18.944099378881987
Intrauterine growth retardation	15.217391304347828
Morphological central nervous system abnormality	13.043478260869565
Abnormal external genitalia	11.438923395445135
Attention deficit hyperactivity disorder	9.109730848861282
Macrocephaly	7.815734989648034
Abnormal cardiac septum morphology	6.625258799171843
Abnormality of the upper urinary tract	5.331262939958592
Conotruncal defect	4.917184265010352
Tall stature	4.3478260869565215
Abnormal heart valve morphology	3.002070393374741
Abnormality of the lower urinary tract	2.898550724637681
Abnormality of cardiovascular system morphology	1.8633540372670807
Abnormal internal genitalia	0.6211180124223602
Abnormality of the genitourinary system	0.4658385093167702

Cohort genome coverage analysis

Distribution of the genome coverage of all mutations characterized in the cohort. Second figure shows the same results for SORs.

HPO annotations distribution

Analysis of the HPO terms within the HPO ontology and the cohort of patients. Left: distribution of terms within the ontology and the cohort. Right: percentage of terms distribution within the ontology and the cohort.

HPOs frequency distribution. Colour based on the HPO frequency.

Clustering patients by HPO profile

All patients are clustered using their HPO profiles. First figure shows the information coefficient distribution for the top clusters. Second figure shows which chromosomes are affected in the patients for each top cluster.

HPO profile redundancy

For each patient profile size (number of phenotypes, x-axis) it is shown the number of HPO phenotypes that are parent of other terms within the profile (number of parent terms, y-axis).

HPO ICs distribution

First figure shows the ICs distribution in terms of the HP ontology (x-axis) and for each single HPO term, its frequency in the cohort according to the HP ontology structure (y-axis) and the second figure shows the same distributions considering the profiles analyzed.

HPO frequency by cluster

Patients in Cluster 0	Phenotypes	Frequency
66	Cognitive impairment, Intellectual disability, mild, Autistic behavior	100.0, 100.0, 100.0

Patients in Cluster 1	Phenotypes	Frequency
63	Cognitive impairment, Intellectual disability, mild, Behavioral abnormality, Abnormal cardiac septum morphology, Abnormality of the genitourinary system	100.0, 100.0, 100.0, 1.5873, 1.5873

Patients in Cluster 2	Phenotypes	Frequency
41	Cognitive impairment, Intellectual disability, moderate, Autistic behavior	100.0, 100.0, 100.0

Patients in Cluster 3	Phenotypes	Frequency
39	Cognitive impairment, Intellectual disability, severe, Autistic behavior	100.0, 100.0, 100.0

Patients in Cluster 4	Phenotypes	Frequency
30	Cognitive impairment, Intellectual disability, mild, Short stature	100.0, 100.0, 100.0

Patients in Cluster 5	Phenotypes	Frequency
26	Cognitive impairment, Intellectual disability, severe, Seizure, Abnormal internal genitalia, Abnormal cardiac septum morphology	100.0, 100.0, 100.0, 3.8462, 3.8462

Patients in Cluster 6	Phenotypes	Frequency
25	Cognitive impairment, Intellectual disability, severe, Behavioral abnormality, Abnormal internal genitalia	100.0, 100.0, 100.0, 4.0

Patients in Cluster 7	Phenotypes	Frequency
22	Cognitive impairment, Intellectual disability, moderate, Hypotonia, Abnormality of the lower urinary tract	100.0, 100.0, 100.0, 4.5455

Patients in Cluster 8	Phenotypes	Frequency
21	Cognitive impairment, Intellectual disability, mild, Hypotonia	100.0, 100.0, 100.0

Patients in Cluster 9	Phenotypes	Frequency
18	Cognitive impairment, Intellectual disability, severe, Autistic behavior, Seizure	100.0, 100.0, 100.0, 100.0

Patients in Cluster 10	Phenotypes	Frequency
18	Cognitive impairment, Intellectual disability, mild, Attention deficit hyperactivity disorder	100.0, 100.0, 100.0

Patients in Cluster 11	Phenotypes	Frequency
18	Cognitive impairment, Intellectual disability, moderate, Behavioral abnormality	100.0, 100.0, 100.0

Patients in Cluster 12	Phenotypes	Frequency
17	Cognitive impairment, Microcephaly, Short stature	100.0, 100.0, 100.0

Patients in Cluster 13	Phenotypes	Frequency
16	Cognitive impairment, Intellectual disability, mild, Macrocephaly, Abnormality of the genitourinary system	100.0, 100.0, 100.0, 6.25

Patients in Cluster 14	Phenotypes	Frequency
15	Cognitive impairment, Intellectual disability, severe, Behavioral abnormality, Seizure	100.0, 100.0, 100.0, 100.0

Patients in Cluster 15	Phenotypes	Frequency
15	Cognitive impairment, Intellectual disability, severe, Seizure, Hypotonia	100.0, 100.0, 100.0, 100.0

Patients in Cluster 16	Phenotypes	Frequency
15	Cognitive impairment, Intellectual disability, mild, Intrauterine growth retardation	100.0, 100.0, 100.0

Patients in Cluster 17	Phenotypes	Frequency
14	Cognitive impairment, Intellectual disability, moderate, Autistic behavior, Seizure, Abnormality of the genitourinary system, Abnormal heart valve morphology	100.0, 100.0, 100.0, 100.0, 7.1429, 7.1429

Patients in Cluster 18	Phenotypes	Frequency
14	Cognitive impairment, Intellectual disability, moderate, Seizure	100.0, 100.0, 100.0

Patients in Cluster 19	Phenotypes	Frequency
14	Cognitive impairment, Intellectual disability, severe, Short stature, Abnormal cardiac septum morphology	100.0, 100.0, 100.0, 7.1429

Patients in Cluster 20	Phenotypes	Frequency
13	Cognitive impairment, Intellectual disability, mild, Seizure	100.0, 100.0, 100.0

Patients in Cluster 21	Phenotypes	Frequency
13	Cognitive impairment, Intellectual disability, severe, Seizure, Microcephaly	100.0, 100.0, 100.0, 100.0

Patients in Cluster 22	Phenotypes	Frequency
11	Cognitive impairment, Seizure, Morphological central nervous system abnormality	100.0, 100.0, 100.0

Patients in Cluster 23	Phenotypes	Frequency
11	Cognitive impairment, Autistic behavior, Attention deficit hyperactivity disorder	100.0, 100.0, 100.0

Patients in Cluster 24	Phenotypes	Frequency
10	Cognitive impairment, Autistic behavior, Seizure	100.0, 100.0, 100.0

Patient profiles heatmaps

For each patient, their HPO profile similarity coefficient is calculated according to the different methods specified in the analysis and represented in these heatmaps.